scholarly journals New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review

2020 ◽  
Vol 10 (11) ◽  
pp. 788
Author(s):  
Slavica Trajkova ◽  
Eleonora Di Gregorio ◽  
Giovanni Battista Ferrero ◽  
Diana Carli ◽  
Lisa Pavinato ◽  
...  
Keyword(s):  
Epileptic Encephalopathy ◽  
Deletion Syndrome ◽  
Specific Gene ◽  
Causative Gene ◽  
Café Au Lait Spots ◽  
Multiple Exostoses ◽  
Contiguous Gene ◽  
Contiguous Gene Deletion Syndrome ◽  
Severe Type ◽  
Minimal Region

Potocki-Shaffer syndrome (PSS) is a rare non-recurrent contiguous gene deletion syndrome involving chromosome 11p11.2. Current literature implies a minimal region with haploinsufficiency of three genes, ALX4 (parietal foramina), EXT2 (multiple exostoses), and PHF21A (craniofacial anomalies, and intellectual disability). The rest of the PSS phenotype is still not associated with a specific gene. We report a systematic review of the literature and included two novel cases. Because deletions are highly variable in size, we defined three groups of patients considering the PSS-genes involved. We found 23 full PSS cases (ALX4, EXT2, and PHF21A), 14 cases with EXT2-ALX4, and three with PHF21A only. Among the latter, we describe a novel male child showing developmental delay, café-au-lait spots, liner postnatal overgrowth and West-like epileptic encephalopathy. We suggest PSS cases may have epileptic spasms early in life, and PHF21A is likely to be the causative gene. Given their subtle presentation these may be overlooked and if left untreated could lead to a severe type or deterioration in the developmental plateau. If our hypothesis is correct, a timely therapy may ameliorate PSS phenotype and improve patients’ outcomes. Our analysis also shows PHF21A is a candidate for the overgrowth phenotype.

scholarly journals Haploinsufficiency ofALX4as a Potential Cause of Parietal Foramina in the 11p11.2 Contiguous Gene–Deletion Syndrome

2000 ◽  
Vol 67 (5) ◽  
pp. 1327-1332 ◽  
Author(s):  
Yuan‐Qing Wu ◽  
Jose L. Badano ◽  
Christopher McCaskill ◽  
Hannes Vogel ◽  
Lorraine Potocki ◽  
...  
Keyword(s):  
Gene Deletion ◽  
Deletion Syndrome ◽  
Contiguous Gene ◽  
Contiguous Gene Deletion Syndrome

scholarly journals Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Mohammad M. Al-Qattan ◽  
Zuhair A. Rahbeeni ◽  
Zuhair N. Al-Hassnan ◽  
Abdulaziz Jarman ◽  
Atif Rafique ◽  
...  
Keyword(s):  
Gene Deletion ◽  
Deletion Syndrome ◽  
Syndrome Type ◽  
Partial Deletion ◽  
Gene Deletions ◽  
Mild Phenotype ◽  
Contiguous Gene ◽  
Chromosome 16P13.3 ◽  
Contiguous Gene Deletion Syndrome

The classic Rubinstein–Taybi syndrome Type 1 (RSTS1, OMIM 180849) is caused by heterozygous mutations or deletions of the CREBBP gene. Herein, we describe the case of a Saudi boy with chromosome 16p13.3 contiguous gene deletion syndrome (OMIM 610543) including the SLX4, DNASE1, TRAP1, and CREBBP genes, but presenting with a relatively mild RSTS1 syndrome phenotype. Compared with previously reported cases with severe phenotypes associated with 16p13.3 contiguous gene deletions, our patient had partial deletion of the CREBBP gene (with a preserved 5′ region), which might explain his relatively mild phenotype.

Human Malformation Syndromes of Defective GLI: Opposite Phenotypes of 2q14.2 (GLI2) and 7p14.2 (GLI3) Microdeletions and a GLIA/R Balance Model

2017 ◽  
Vol 153 (2) ◽  
pp. 56-65 ◽  
Author(s):  
Yo Niida ◽  
Mika Inoue ◽  
Mamoru Ozaki ◽  
Etsuko Takase
Keyword(s):  
Hedgehog Signaling ◽  
Gene Deletion ◽  
Balance Model ◽  
Deletion Syndrome ◽  
Sonic Hedgehog Signaling ◽  
Cavernous Malformations ◽  
Contiguous Gene ◽  
Embryonic Morphogenesis ◽  
Malformation Syndromes ◽  
Contiguous Gene Deletion Syndrome

GLI family zinc finger proteins are transcriptional effectors of the sonic hedgehog signaling pathway. GLI regulates gene expression and repression at various phases of embryonic morphogenesis. In humans, 4 GLI genes are known, and GLI2 (2q14.2) and GLI3 (7p14.1) mutations cause different syndromes. Here, we present 2 distinctive cases with a chromosomal microdeletion in one of these genes. Patient 1 is a 14-year-old girl with Culler-Jones syndrome. She manifested short stature, cleft palate, and mild intellectual/social disability caused by a 6.6-Mb deletion of 2q14.1q14.3. Patient 2 is a 2-year-old girl with Greig cephalopolysyndactyly contiguous gene deletion syndrome. She manifested macrocephaly, preaxial polysyndactyly, psychomotor developmental delay, cerebral cavernous malformations, and glucose intolerance due to a 6.2-Mb deletion of 7p14.1p12.3 which included GLI3, GCK, and CCM2. Each patient manifests a different phenotype which is associated with different functions of each GLI gene and different effects of the chromosomal contiguous gene deletion. We summarize the phenotypic extent of GLI2/3 syndromes in the literature and determine that these 2 syndromes manifest opposite features to a certain extent, such as midface hypoplasia or macrocephaly, and anterior or posterior side of polydactyly. We propose a GLIA/R balance model that may explain these findings.

Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome

2003 ◽  
Vol 123A (3) ◽  
pp. 236-242 ◽  
Author(s):  
Jennifer J. Johnston ◽  
Isabelle Olivos-Glander ◽  
Joyce Turner ◽  
Kyrieckos Aleck ◽  
Lynne M. Bird ◽  
...  
Keyword(s):  
Gene Deletion ◽  
Deletion Syndrome ◽  
Acrocallosal Syndrome ◽  
Contiguous Gene ◽  
Contiguous Gene Deletion Syndrome

Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols

2009 ◽  
Vol 29 (10) ◽  
pp. 966-974 ◽  
Author(s):  
Sylvie Langlois ◽  
Linlea Armstrong ◽  
Kim Gall ◽  
Gurdip Hulait ◽  
Janet Livingston ◽  
...  
Keyword(s):  
Gene Deletion ◽  
Deletion Syndrome ◽  
Steroid Sulfatase ◽  
Contiguous Gene ◽  
Contiguous Gene Deletion Syndrome ◽  
Steroid Sulfatase Deficiency ◽  
Low Serum
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